Sickle Cell Anemia Mutation Detection - Book Test at Low Cost

This test is done to detect the sickle cell anemia mutation. The mutation is usually of a single nucleotide from GAG to GTG codon.

What is Mutation?

It has been seen that in specific genetic and environmental conditions, the DNA sequence experiences a difference in its coding pattern that can be fatal; this is called “Mutation”. This normally originates as a result of environmental justifications as stated above.

Usually, it is of the two types as listed below:

1.  Somatic mutation

2. Germline mutation

Sickle Cell Anemia:

Sickle cell disease is defined as a group (Cumulative) of the inherited red blood cell disorders affecting hemoglobin that is protein carrying oxygen throughout the body. This condition also affects more than 20 million people worldwide.

As SCA, i.e.  Sickle Cell Anemia  is an autosomal recessive disease (ARD). It is said to be caused by the point mutation in hemoglobin beta gene (HBB), which is  found on chromosome 11p15.

Shape of Normal RBC vs Sickle Cell

Generally, the red blood cells are supposed to be disc-shaped along with being flexible enough, so as to move easily and through the corresponding blood vessels. In case, you suffer from the sickle cell disease, the red blood cells are likely to be rather crescent- or “sickle”-shaped in nature instead of the normal disc shape. 

As these cells cannot bend forward or cannot move easily, they usually block blood flow to the remaining parts of the body.

Life of Normal RBC vs Sickle Cell 

It is important to note that, usually the Sickle cells also don’t have a life expectancy as long as a normal red blood cell would.

Normal RBCs have a life of 120 days, while Sickle cells enter self destruction mode within 10 to 20 days only.

 As a result of this, there aren’t enough healthy red blood cells circulating in the body ahead, and subsequently this leads to the development of anemia. This is the condition that would give sickle cell anemia the name as suggested.

Advancement in Early Detection

In the past, babies that were born with sickle cell anemia, rarely lived to be an adult. However, now, with early detection and monitoring available today, along with and new treatments present, about at least half of all people suffering from sickle cell anemia tend to live longer and are now entering into their age of respective 50s. 

Cause of Sickle Cell Anemia

The Sickle cell anemia is a kind of an inherited blood disorder, from sickle cell disease, as stated above. The Sickle shaped cells prevent the oxygen from being carried in the body. 

SICKLE CELL ANEMIA: The gene which is responsible in creating normal red blood cells in this case, mutates, or perhaps changes. 

SICKLE CELL TRAIT: The individuals who inherit this mutated hemoglobin protein gene from both their biological parents end up with sickle cell anemia. On the other hand, individuals who only inherit this corresponding mutated gene from one biological parent tend to have the sickle cell trait.

Signs and Symptoms of Medical Conditions linked to Sickle Cell Anemia

Sickle cell anemia affected patients, usually present with symptoms when they are only 5 to 6 months old. 

As the babies develop into infants and grow older, most individuals with the sickle cell anemia will have an increased risk for developing any new associated medical condition. This way, the healthcare professionals can proceed to treat the condition and plan in advance..

These include Pulmonary hypertension, Chronic Kidney Disease, Detached Retina, Leg Ulcers, Bacterial Infections.

Vaso-inclusive crisis VOC, or acute pain crises

This is the most common stated reason as to why patients suffering from sickle cell anemia rush to the emergency room or get admitted in the hospital. The symptoms of Sickle Cell Anemia associated VOC include:

1. A Sudden Intense Pain experienced by the patient. This pain could be felt as sharp or stabbing in nature.
2. The VOC affects any part of the body, but usually it is noted that it ends up affecting  your abdomen, followed by the lower back, and further the arms and legs.

Acute chest syndrome (ACS)

This is also a common cause of death in individuals and it is also said to be the second most common cause of the patient being admitted in the hospital after VOC.

The symptoms include the following:

1. A Sudden chest pain experienced by the patient
2. Spontaneous or Chronic Cough
3. Patient suffering from constant fever
4. Troubled breathing experienced by the patient

Furthermore, Patients who have sickle cell anemia are at risk of the following diseases:

1. Increase risk of Stroke including babies: 11% patients have stroke by the age of 20 and 24% by the ages of 45 and above.
2. Splenetic sequestration: This usually happens when the sickle cells become heavy and eventually get stuck in the  spleen, thus, forcing the spleen to get larger.(Spleenomegaly).
3. Bacterial Infections: Individuals suffering from  sickle cell anemia also have an increased risk of developing  infections that are  caused by the Streptococcus pneumoniae, Haemophilus influenzae and non-Typhi Salmonella species of bacteria.
4. Priapism: It is seen that approximately 35% of all the, individuals, assigned male at birth (AMAB) develop priapism, or commonly called “painful erections”, that would usually last for four hours or more.

Diagnosis of Sickle Cell Anemia by Health Care Professionals

The Healthcare professional usually diagnoses the sickle cell anemia in patients by taking the blood samples from them. They may also use a technique which is called hemoglobin electrophoresis or high-performance liquid chromatography.

Chances of Child Developing Sickle Cell Anemia

It has been established that, in both partners have sickle cell trait, there is a  25% chance of a baby being born with the sickle cell anemia. However, If only one has sickle cell trait, the child will be born with sickle cell anemia, with the probability of 50% chance of the sickle cell trait. 

Prenatal Screening 

By taking the sample of biological mother’s amniotic fluid or tissue from mother’s placenta. The samples will be examined for signs of this sickle hemoglobin gene that eventually would cause the following condition.

Blood Test

Complete Blood Count (CBC): This test is also used to estimate total blood cell count. This also aids in measuring the WBC or the white blood cell count, essential in determining an infection

Lactate Test: This test detects heart failures and severe infections that can be caused by lactic acid formation.

C-Reactive Protein: This produces swelling and inflammation within organs.

Blood culture: A blood test would easily identify any bacteria and subsequent infection for the underlying medical condition.

PT: Prothrombin time

Sickle Cell Anemia Mutation Test 

This test is usually carried out to detect sickle cell anemia mutation. This mutation is usually of single nucleotide change i.e from GAG to GTG codon in the DNA.

Test Conducted By Ganesh Diagnostic and Imagining Center and Cost of Sickle Cell Anemia Mutation Test in Delhi

In general, the costs of the Sickle Cell Anemia Mutation test may vary as per the region and the facility.

So, it is highly recommended that the test is carried out with utmost sincerity at trustworthy diagnostic centers like: Ganesh Diagnostic and Imaging Centre.

Here, we provide trained, skilled and experience professionals that assure patient safety and conduct the patient and the visitor with dignity and respect

Treatment of Sickle Cell Anemia

1. In today’s time, the Allogenic Stem Cell transplantation is being used and it is perhaps the only way healthcare providers can perfectly cure sickle cell anemia 
2. Moreover, Healthcare professionals also treat sickle cell anemia with multiple blood transfusions, and antibiotics to treat further anticipated infections

The medications are inclusive of  hydroxyurea, voxlelotor, and L-glutamine therapy along with  crizanlizumab.

Body Fluids:

Body fluids are liquids that play an essential role in the body. It is made up of proteins. Bodily fluids are:

• Breast Milk
• Ear wax
• Cerebrospinal fluid
• Blood
• Humor
• Bile
• Gastric juices
• Mucus
• Phlegm
• Endolymph and perilymph

Treatment

• The following medicines are prescribed: Hydroxyurea (Hydrea)
• Glutamine oral powder
• Voxelotor
• Crizanlizumab